Canonical Allele Identifier: CA2781156150

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86667139A>C , CM000670.2:g.86667139A>C	GRCh38
NC_000008.10:g.87679367A>C , CM000670.1:g.87679367A>C	GRCh37
NC_000008.9:g.87748483A>C	NCBI36
NG_016980.1:g.81537T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.644-6T>G MANE Select	ENSP00000316605.5:n.644-6T>G
ENST00000681746.1:c.644-6T>G	ENSP00000505959.1:n.644-6T>G
ENST00000320005.5:c.644-6T>G	ENSP00000316605.5:n.644-6T>G
NM_019098.4:c.644-6T>G	NP_061971.3:n.644-6T>G
XM_011517138.1:c.230-6T>G	XP_011515440.1:n.230-6T>G
XM_011517138.2:c.230-6T>G	XP_011515440.1:n.230-6T>G
NM_019098.5:c.644-6T>G MANE Select	NP_061971.3:n.644-6T>G